Incidental Mutation 'R7152:Or51k1'
ID 554200
Institutional Source Beutler Lab
Gene Symbol Or51k1
Ensembl Gene ENSMUSG00000066263
Gene Name olfactory receptor family 51 subfamily K member 1
Synonyms GA_x6K02T2PBJ9-6747143-6746193, MOR12-1, Olfr639
MMRRC Submission 045254-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.122) question?
Stock # R7152 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 103660957-103661907 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 103661226 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 228 (M228L)
Ref Sequence ENSEMBL: ENSMUSP00000149743 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000106862] [ENSMUST00000138055] [ENSMUST00000215653]
AlphaFold Q8VGY8
Predicted Effect probably benign
Transcript: ENSMUST00000106862
AA Change: M228L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000102475
Gene: ENSMUSG00000066263
AA Change: M228L

DomainStartEndE-ValueType
Pfam:7tm_4 33 312 1.4e-120 PFAM
Pfam:7TM_GPCR_Srsx 37 173 3.6e-9 PFAM
Pfam:7tm_1 43 294 4.9e-18 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000138055
SMART Domains Protein: ENSMUSP00000139240
Gene: ENSMUSG00000109824

DomainStartEndE-ValueType
transmembrane domain 29 51 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000215653
AA Change: M228L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.6%
Validation Efficiency 100% (53/53)
MGI Phenotype FUNCTION: Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Btnl10 A G 11: 58,813,223 (GRCm39) N284S probably benign Het
Casz1 C G 4: 148,985,748 (GRCm39) probably benign Het
Cdkn2c A T 4: 109,522,235 (GRCm39) F37I probably damaging Het
Cdyl2 T C 8: 117,351,066 (GRCm39) K22E probably damaging Het
Cers1 T C 8: 70,770,901 (GRCm39) W104R probably damaging Het
Cgrrf1 T A 14: 47,090,934 (GRCm39) Y223* probably null Het
Cited2 C A 10: 17,600,134 (GRCm39) N147K probably benign Het
Clip2 A T 5: 134,525,095 (GRCm39) L904Q probably damaging Het
Cntln T C 4: 84,802,937 (GRCm39) V79A possibly damaging Het
Cntnap1 C T 11: 101,068,152 (GRCm39) R55W probably damaging Het
Cspg4b T C 13: 113,455,384 (GRCm39) F477L Het
Ctnna2 T A 6: 76,957,807 (GRCm39) T481S possibly damaging Het
Ddx17 T C 15: 79,414,464 (GRCm39) T570A possibly damaging Het
Epha7 A G 4: 28,935,826 (GRCm39) K483E possibly damaging Het
Eps8l2 A T 7: 140,935,678 (GRCm39) I150F possibly damaging Het
Esyt1 A G 10: 128,351,629 (GRCm39) S827P possibly damaging Het
Fbxl13 T A 5: 21,787,065 (GRCm39) I291F possibly damaging Het
Foxd3 A C 4: 99,545,562 (GRCm39) H234P probably benign Het
Ggta1 T A 2: 35,292,711 (GRCm39) M199L probably benign Het
H3c13 A G 3: 96,176,254 (GRCm39) D82G probably benign Het
Ighv5-15 T C 12: 113,790,317 (GRCm39) E101G probably benign Het
Igkv8-18 T C 6: 70,333,205 (GRCm39) L49P probably damaging Het
Itpr1 T C 6: 108,371,368 (GRCm39) probably null Het
Klhl36 C T 8: 120,596,953 (GRCm39) T218M probably benign Het
Ltn1 A G 16: 87,224,529 (GRCm39) F65S probably damaging Het
Marchf3 A G 18: 56,909,053 (GRCm39) V244A probably benign Het
Myl10 G C 5: 136,726,825 (GRCm39) V70L probably benign Het
Ndst3 T A 3: 123,346,305 (GRCm39) I642F possibly damaging Het
Neb T C 2: 52,153,557 (GRCm39) D2456G probably damaging Het
Nphp1 A G 2: 127,595,899 (GRCm39) M522T probably benign Het
Or8k33 C T 2: 86,383,673 (GRCm39) S265N probably benign Het
Pam T A 1: 97,813,465 (GRCm39) M322L probably damaging Het
Pcdhgb1 C A 18: 37,814,854 (GRCm39) H448Q probably benign Het
Pcnt T C 10: 76,247,194 (GRCm39) probably null Het
Pgm3 A T 9: 86,449,593 (GRCm39) D142E probably benign Het
Pomgnt2 C T 9: 121,812,589 (GRCm39) G64D probably damaging Het
Sds A T 5: 120,619,716 (GRCm39) probably null Het
Sirpb1b G T 3: 15,607,230 (GRCm39) Q351K probably benign Het
Slc2a12 T A 10: 22,541,453 (GRCm39) M436K probably benign Het
Slc9a5 G A 8: 106,095,025 (GRCm39) G872D probably benign Het
Stxbp2 T G 8: 3,682,583 (GRCm39) S57R probably benign Het
Sult2a6 T A 7: 13,956,445 (GRCm39) D272V probably benign Het
Supt5 A G 7: 28,023,325 (GRCm39) M318T probably benign Het
Tdpoz3 T C 3: 93,733,772 (GRCm39) V149A probably damaging Het
Tead2 T A 7: 44,869,871 (GRCm39) S124T possibly damaging Het
Tssc4 T A 7: 142,624,139 (GRCm39) V149D probably damaging Het
Ttn C T 2: 76,683,505 (GRCm39) A906T Het
Uspl1 A G 5: 149,124,588 (GRCm39) T2A possibly damaging Het
Vmn1r124 G A 7: 20,994,184 (GRCm39) P120L probably benign Het
Vmn1r37 T C 6: 66,708,883 (GRCm39) Y170H probably benign Het
Vnn3 T A 10: 23,727,513 (GRCm39) V11E possibly damaging Het
Zbtb7b C T 3: 89,288,209 (GRCm39) R203H probably benign Het
Zfhx3 T C 8: 109,674,839 (GRCm39) V1963A possibly damaging Het
Zfp324 C A 7: 12,700,198 (GRCm39) A19E probably benign Het
Zfyve26 T C 12: 79,325,888 (GRCm39) S784G probably benign Het
Other mutations in Or51k1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01096:Or51k1 APN 7 103,661,321 (GRCm39) missense probably damaging 1.00
IGL01547:Or51k1 APN 7 103,661,867 (GRCm39) missense probably benign 0.43
IGL02173:Or51k1 APN 7 103,661,037 (GRCm39) missense probably damaging 1.00
IGL02707:Or51k1 APN 7 103,661,609 (GRCm39) missense probably damaging 1.00
IGL03124:Or51k1 APN 7 103,661,001 (GRCm39) missense probably benign
R0004:Or51k1 UTSW 7 103,661,638 (GRCm39) missense probably benign 0.02
R0086:Or51k1 UTSW 7 103,661,261 (GRCm39) missense probably benign 0.23
R0370:Or51k1 UTSW 7 103,661,266 (GRCm39) missense probably damaging 0.99
R0599:Or51k1 UTSW 7 103,661,395 (GRCm39) nonsense probably null
R1351:Or51k1 UTSW 7 103,661,523 (GRCm39) missense possibly damaging 0.81
R1604:Or51k1 UTSW 7 103,661,162 (GRCm39) missense probably damaging 1.00
R2314:Or51k1 UTSW 7 103,661,436 (GRCm39) missense probably benign 0.09
R2656:Or51k1 UTSW 7 103,661,072 (GRCm39) missense probably damaging 0.96
R4594:Or51k1 UTSW 7 103,661,624 (GRCm39) missense probably benign 0.01
R4774:Or51k1 UTSW 7 103,661,795 (GRCm39) missense probably benign 0.00
R4945:Or51k1 UTSW 7 103,661,585 (GRCm39) missense possibly damaging 0.85
R4968:Or51k1 UTSW 7 103,661,777 (GRCm39) missense probably damaging 1.00
R4981:Or51k1 UTSW 7 103,661,312 (GRCm39) missense probably damaging 0.97
R5072:Or51k1 UTSW 7 103,661,325 (GRCm39) missense probably damaging 0.97
R5982:Or51k1 UTSW 7 103,661,117 (GRCm39) missense probably damaging 1.00
R6303:Or51k1 UTSW 7 103,661,238 (GRCm39) missense probably damaging 1.00
R6304:Or51k1 UTSW 7 103,661,238 (GRCm39) missense probably damaging 1.00
R6332:Or51k1 UTSW 7 103,660,980 (GRCm39) missense probably benign 0.00
R7107:Or51k1 UTSW 7 103,661,489 (GRCm39) missense probably benign 0.16
R7456:Or51k1 UTSW 7 103,661,045 (GRCm39) missense possibly damaging 0.83
R7849:Or51k1 UTSW 7 103,661,510 (GRCm39) missense possibly damaging 0.56
R8023:Or51k1 UTSW 7 103,661,006 (GRCm39) missense probably damaging 0.97
R8082:Or51k1 UTSW 7 103,661,897 (GRCm39) missense probably benign 0.04
R8215:Or51k1 UTSW 7 103,661,330 (GRCm39) missense possibly damaging 0.85
R8428:Or51k1 UTSW 7 103,661,632 (GRCm39) nonsense probably null
R8985:Or51k1 UTSW 7 103,661,367 (GRCm39) missense probably damaging 1.00
R9261:Or51k1 UTSW 7 103,661,336 (GRCm39) missense probably damaging 1.00
Z1177:Or51k1 UTSW 7 103,661,357 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- GGCACAAACAGATAGATGCTCG -3'
(R):5'- ATCCATGGGTCTGGGTATTACAC -3'

Sequencing Primer
(F):5'- CTCGACATAAGTGTGTGGACCAC -3'
(R):5'- CCATGGGTCTGGGTATTACACTAAAG -3'
Posted On 2019-05-15